ZNF280C p.Gly617Gly

Variant names:

• chrX-130215320-T-T
• NM_017666.5:c.

Your query was ambiguous. Multiple possible variants found:

• chrX-130215321--
• chrX-130215321-T-A
• chrX-130215321-T-G
• chrX-130215321-T-C

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_017666.5(ZNF280C):​c. variant causes a exon region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 22)
• Consequence: ZNF280C NM_017666.5 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.39
• Publications: 0 publications found

Genes affected

ZNF280C (HGNC:25955): (zinc finger protein 280C) This gene encodes a member of the zinc finger domain-containing protein family. This family member contains multiple Cys2-His2(C2H2)-type zinc finger domains, the most common type of zinc finger domain that self-folds to form a beta-beta-alpha structure that binds a zinc ion. [provided by RefSeq, Aug 2011]

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_017666.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZNF280C	NM_017666.5	MANE Select	c.		exon_region	Exon 15 of 19	NP_060136.1	Q8ND82

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZNF280C	ENST00000370978.9	TSL:1 MANE Select	c.		exon_region	Exon 15 of 19	ENSP00000360017.4	Q8ND82
	ZNF280C	ENST00000447817.1	TSL:1	c.		exon_region	Exon 14 of 14	ENSP00000408521.1	Q9UJJ2
	ZNF280C	ENST00000930023.1		c.		exon_region	Exon 15 of 20	ENSP00000600082.1

Frequencies

GnomAD3 genomes Cov.: 22

GnomAD4 exome Cov.: 28

GnomAD4 genome Cov.: 22

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.4

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chrX-129349294;